A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2330n166



Internal ID20167758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:25958367..26277108hg38UCSC Ensembl
chr7:25997987..26316728hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38318742
hg19318742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4135067, nsv4142340
Samples
Known GenesCBX3, HNRNPA2B1, NFE2L3
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)dgv2330n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer